Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-12

AUTHORS

Valentín Pérez, Aroa Suárez-Vega, Miguel Fuertes, Julio Benavides, Laetitia Delgado, M Carmen Ferreras, Juan José Arranz

ABSTRACT

BACKGROUND: Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication. RESULTS: Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance. CONCLUSIONS: The study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in Churra lambs for which an autosomal recessive inheritance was the most likely cause. Histopathological features observed in the cerebral cortex and hippocampus are consistent with a possible failure in neuronal migration during brain development. This report suggests that lissencephaly should be considered in the differential diagnosis of congenital neurological disease in newborn lambs showing weakness, inability to walk and difficulty sucking. More... »

PAGES

156

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/1746-6148-9-156

DOI

http://dx.doi.org/10.1186/1746-6148-9-156

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1039543195

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23938146


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Recessive", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lissencephaly", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sheep", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sheep Diseases", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "University of Leon", 
          "id": "https://www.grid.ac/institutes/grid.4807.b", 
          "name": [
            "Departamento de Sanidad Animal (Anatom\u00eda Patol\u00f3gica), Instituto de Ganader\u00eda de Monta\u00f1a (CSIC-ULE), Facultad de Veterinaria, Universidad de Le\u00f3n, Campus de Vegazana s/n, 24071, Le\u00f3n, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "P\u00e9rez", 
        "givenName": "Valent\u00edn", 
        "id": "sg:person.01057233402.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01057233402.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Leon", 
          "id": "https://www.grid.ac/institutes/grid.4807.b", 
          "name": [
            "Departamento de Producci\u00f3n Animal, Facultad de Veterinaria, Universidad de Le\u00f3n, Campus de Vegazana s/n, 24071, Le\u00f3n, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Su\u00e1rez-Vega", 
        "givenName": "Aroa", 
        "id": "sg:person.01052140246.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052140246.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Leon", 
          "id": "https://www.grid.ac/institutes/grid.4807.b", 
          "name": [
            "Departamento de Sanidad Animal (Anatom\u00eda Patol\u00f3gica), Instituto de Ganader\u00eda de Monta\u00f1a (CSIC-ULE), Facultad de Veterinaria, Universidad de Le\u00f3n, Campus de Vegazana s/n, 24071, Le\u00f3n, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fuertes", 
        "givenName": "Miguel", 
        "id": "sg:person.01347376761.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347376761.23"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Leon", 
          "id": "https://www.grid.ac/institutes/grid.4807.b", 
          "name": [
            "Departamento de Sanidad Animal (Anatom\u00eda Patol\u00f3gica), Instituto de Ganader\u00eda de Monta\u00f1a (CSIC-ULE), Facultad de Veterinaria, Universidad de Le\u00f3n, Campus de Vegazana s/n, 24071, Le\u00f3n, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Benavides", 
        "givenName": "Julio", 
        "id": "sg:person.01165035161.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165035161.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Leon", 
          "id": "https://www.grid.ac/institutes/grid.4807.b", 
          "name": [
            "Departamento de Sanidad Animal (Anatom\u00eda Patol\u00f3gica), Instituto de Ganader\u00eda de Monta\u00f1a (CSIC-ULE), Facultad de Veterinaria, Universidad de Le\u00f3n, Campus de Vegazana s/n, 24071, Le\u00f3n, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Delgado", 
        "givenName": "Laetitia", 
        "id": "sg:person.0777336535.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777336535.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Leon", 
          "id": "https://www.grid.ac/institutes/grid.4807.b", 
          "name": [
            "Departamento de Sanidad Animal (Anatom\u00eda Patol\u00f3gica), Instituto de Ganader\u00eda de Monta\u00f1a (CSIC-ULE), Facultad de Veterinaria, Universidad de Le\u00f3n, Campus de Vegazana s/n, 24071, Le\u00f3n, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ferreras", 
        "givenName": "M Carmen", 
        "id": "sg:person.01302615246.65", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302615246.65"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Leon", 
          "id": "https://www.grid.ac/institutes/grid.4807.b", 
          "name": [
            "Departamento de Producci\u00f3n Animal, Facultad de Veterinaria, Universidad de Le\u00f3n, Campus de Vegazana s/n, 24071, Le\u00f3n, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arranz", 
        "givenName": "Juan Jos\u00e9", 
        "id": "sg:person.01162126320.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162126320.22"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1136/jmg.33.4.319", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002946518"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00306191", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010099166", 
          "https://doi.org/10.1007/bf00306191"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/aws019", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012474388"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00401-003-0776-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012680824", 
          "https://doi.org/10.1007/s00401-003-0776-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/79246", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012756877", 
          "https://doi.org/10.1038/79246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/79246", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012756877", 
          "https://doi.org/10.1038/79246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/16.3.1215", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012912024"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/374719a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015900902", 
          "https://doi.org/10.1038/374719a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<440::aid-ajmg14>3.0.co;2-#", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018981325"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00401-010-0684-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019010103", 
          "https://doi.org/10.1007/s00401-010-0684-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00401-010-0684-z", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019010103", 
          "https://doi.org/10.1007/s00401-010-0684-z"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)80899-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019394783"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)80782-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021530806"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/ddq182", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026888045"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/brain/awn155", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029466139"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.jcpa.2009.04.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030368836"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.neuro.24.1.1005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031786820"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1751-0813.1983.tb05926.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032621964"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1751-0813.1983.tb05926.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032621964"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19991105)87:1<40::aid-ajmg8>3.0.co;2-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032806838"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/9780470753316.ch18", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033247147"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2052.2006.01550.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036793889"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/9780470753316.ch63", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037287762"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0300985812447831", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038037672"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/0300985812447831", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038037672"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00401-010-0768-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039911735", 
          "https://doi.org/10.1007/s00401-010-0768-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nbd.2009.02.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040511509"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s10897-008-9169-9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044149630", 
          "https://doi.org/10.1007/s10897-008-9169-9"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrn1113", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044231972", 
          "https://doi.org/10.1038/nrn1113"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrn1113", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044231972", 
          "https://doi.org/10.1038/nrn1113"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/39607", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046936837", 
          "https://doi.org/10.1038/39607"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/39607", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046936837", 
          "https://doi.org/10.1038/39607"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2006.12.021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047393206"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0166-2236(00)01607-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047878195"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/030098588902600106", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048268230"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1177/030098588902600106", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048268230"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.neuro.24.1.1041", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048449550"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0896-6273(00)80749-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048930789"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/jnen/61.1.1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051500633"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-2001-19120", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057411853"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-2007-973778", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1057506045"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074463012", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1055/s-0038-1623564", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1078484688"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1523/jneurosci.15-05-03730.1995", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1082492567"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1523/jneurosci.17-23-09204.1997", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083171208"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083250184", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2013-12", 
    "datePublishedReg": "2013-12-01", 
    "description": "BACKGROUND: Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication.\nRESULTS: Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance.\nCONCLUSIONS: The study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in Churra lambs for which an autosomal recessive inheritance was the most likely cause. Histopathological features observed in the cerebral cortex and hippocampus are consistent with a possible failure in neuronal migration during brain development. This report suggests that lissencephaly should be considered in the differential diagnosis of congenital neurological disease in newborn lambs showing weakness, inability to walk and difficulty sucking.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/1746-6148-9-156", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1035490", 
        "issn": [
          "1746-6148"
        ], 
        "name": "BMC Veterinary Research", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "9"
      }
    ], 
    "name": "Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs", 
    "pagination": "156", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "bc5d9323e35383869273335e5dfd3bab4c2d4e67f15cf91cc487839b68ba8ae1"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "23938146"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101249759"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/1746-6148-9-156"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1039543195"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/1746-6148-9-156", 
      "https://app.dimensions.ai/details/publication/pub.1039543195"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T15:01", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000001_0000000264/records_8663_00000514.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1186%2F1746-6148-9-156"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/1746-6148-9-156'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/1746-6148-9-156'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/1746-6148-9-156'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/1746-6148-9-156'


 

This table displays all metadata directly associated to this object as RDF triples.

267 TRIPLES      21 PREDICATES      76 URIs      29 LITERALS      17 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/1746-6148-9-156 schema:about N164fd10e56704f458f2f4279c6186e69
2 N56aa6ec8a5554a64a45607702a01ae46
3 N9b8d22016b8d41998d393f2cde79eee6
4 N9d2c9c0f24dc4bdb90bcb1df7041dcce
5 Nabff02a95b39456e9599327797730b25
6 Nd21dc9ce358948e09a4fab9f095f9769
7 Nd8388c6a9e5e46db8d37fc28f71e7083
8 Nf8b16f16c4bb4b32bc70fb0a8b455f4d
9 anzsrc-for:11
10 anzsrc-for:1109
11 schema:author N0d3ac23b017b4bf38c9b99147e3b60d2
12 schema:citation sg:pub.10.1007/bf00306191
13 sg:pub.10.1007/s00401-003-0776-0
14 sg:pub.10.1007/s00401-010-0684-z
15 sg:pub.10.1007/s00401-010-0768-9
16 sg:pub.10.1007/s10897-008-9169-9
17 sg:pub.10.1038/374719a0
18 sg:pub.10.1038/39607
19 sg:pub.10.1038/79246
20 sg:pub.10.1038/nrn1113
21 https://app.dimensions.ai/details/publication/pub.1074463012
22 https://app.dimensions.ai/details/publication/pub.1083250184
23 https://doi.org/10.1002/(sici)1096-8628(19991105)87:1<40::aid-ajmg8>3.0.co;2-2
24 https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<440::aid-ajmg14>3.0.co;2-#
25 https://doi.org/10.1002/9780470753316.ch18
26 https://doi.org/10.1002/9780470753316.ch63
27 https://doi.org/10.1016/j.cell.2006.12.021
28 https://doi.org/10.1016/j.jcpa.2009.04.003
29 https://doi.org/10.1016/j.nbd.2009.02.008
30 https://doi.org/10.1016/s0092-8674(00)80782-5
31 https://doi.org/10.1016/s0092-8674(00)80899-5
32 https://doi.org/10.1016/s0166-2236(00)01607-6
33 https://doi.org/10.1016/s0896-6273(00)80749-7
34 https://doi.org/10.1055/s-0038-1623564
35 https://doi.org/10.1055/s-2001-19120
36 https://doi.org/10.1055/s-2007-973778
37 https://doi.org/10.1093/brain/awn155
38 https://doi.org/10.1093/brain/aws019
39 https://doi.org/10.1093/hmg/ddq182
40 https://doi.org/10.1093/jnen/61.1.1
41 https://doi.org/10.1093/nar/16.3.1215
42 https://doi.org/10.1111/j.1365-2052.2006.01550.x
43 https://doi.org/10.1111/j.1751-0813.1983.tb05926.x
44 https://doi.org/10.1136/jmg.33.4.319
45 https://doi.org/10.1146/annurev.neuro.24.1.1005
46 https://doi.org/10.1146/annurev.neuro.24.1.1041
47 https://doi.org/10.1177/0300985812447831
48 https://doi.org/10.1177/030098588902600106
49 https://doi.org/10.1523/jneurosci.15-05-03730.1995
50 https://doi.org/10.1523/jneurosci.17-23-09204.1997
51 schema:datePublished 2013-12
52 schema:datePublishedReg 2013-12-01
53 schema:description BACKGROUND: Lissencephaly is a rare developmental brain disorder in veterinary and human medicine associated with defects in neuronal migration leading to a characteristic marked reduction or absence of the convolutional pattern of the cerebral hemispheres. In many human cases the disease has a genetic basis. In sheep, brain malformations, mainly cerebellar hypoplasia and forms of hydrocephalus, are frequently due to in utero viral infections. Although breed-related malformations of the brain have been described in sheep, breed-related lissencephaly has not been previously recorded in a peer reviewed publication. RESULTS: Here we report neuropathological findings in 42 newborn lambs from a pure Churra breed flock, with clinical signs of weakness, inability to walk, difficulty in sucking and muscular rigidity observed immediately after birth. All the lambs showed near-total agyria with only a rudimentary formation of few sulci and gyri, and a severe cerebellar hypoplasia. On coronal section, the cerebral grey matter was markedly thicker than that of age-matched unaffected lambs and the ventricular system was moderately dilated. Histologically, the normal layers of the cerebral cortex were disorganized and, using an immunohistochemical technique against neurofilaments, three layers were identified instead of the six present in normal brains. The hippocampus was also markedly disorganised and the number and size of lobules were reduced in the cerebellum. Heterotopic neurons were present in different areas of the white matter. The remainder of the brain structures appeared normal. The pathological features reported are consistent with the type LCH-b (lissencephaly with cerebellar hypoplasia group b) defined in human medicine. No involvement of pestivirus or bluetongue virus was detected by immunohistochemistry. An analysis of pedigree data was consistent with a monogenic autosomal recessive pattern inheritance. CONCLUSIONS: The study describes the clinical and pathological findings of lissencephaly with cerebellar hypoplasia in Churra lambs for which an autosomal recessive inheritance was the most likely cause. Histopathological features observed in the cerebral cortex and hippocampus are consistent with a possible failure in neuronal migration during brain development. This report suggests that lissencephaly should be considered in the differential diagnosis of congenital neurological disease in newborn lambs showing weakness, inability to walk and difficulty sucking.
54 schema:genre research_article
55 schema:inLanguage en
56 schema:isAccessibleForFree true
57 schema:isPartOf N2dac0ed2c7c24f1c86aa21fbe52c02e3
58 N4b4bd46429ba4568a9c4e579f0ef67a3
59 sg:journal.1035490
60 schema:name Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs
61 schema:pagination 156
62 schema:productId N9791534707a34ff4b1f65c35d3a65b9e
63 Na94e7686452b47618952b2ae8edb11fa
64 Nbe13c3837bab4044bd2fa4ccc53ec72d
65 Ncc08e33060a54e3d90bc9e666ad839ab
66 Nda7bfd52ced2404db81c230b820c9e7d
67 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039543195
68 https://doi.org/10.1186/1746-6148-9-156
69 schema:sdDatePublished 2019-04-10T15:01
70 schema:sdLicense https://scigraph.springernature.com/explorer/license/
71 schema:sdPublisher N98c6231468d54db891c53a63be0cb169
72 schema:url http://link.springer.com/10.1186%2F1746-6148-9-156
73 sgo:license sg:explorer/license/
74 sgo:sdDataset articles
75 rdf:type schema:ScholarlyArticle
76 N0a641f1493d04dc9b133342d2673f0c7 rdf:first sg:person.01302615246.65
77 rdf:rest N6ce5dd5d577246fca3bab47c685af4a0
78 N0d3ac23b017b4bf38c9b99147e3b60d2 rdf:first sg:person.01057233402.34
79 rdf:rest Nd7bc3ef72fa9420aa5a52e4acfc8a2ed
80 N164fd10e56704f458f2f4279c6186e69 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name Sheep
82 rdf:type schema:DefinedTerm
83 N171339ec56ab4a1697fcdacf8afabaf6 rdf:first sg:person.01165035161.18
84 rdf:rest N70494ed38b0040a4a8ade5c51a9c86f6
85 N19f1ee65b99445a8ac68b098a7de78a0 rdf:first sg:person.01347376761.23
86 rdf:rest N171339ec56ab4a1697fcdacf8afabaf6
87 N2dac0ed2c7c24f1c86aa21fbe52c02e3 schema:volumeNumber 9
88 rdf:type schema:PublicationVolume
89 N4b4bd46429ba4568a9c4e579f0ef67a3 schema:issueNumber 1
90 rdf:type schema:PublicationIssue
91 N56aa6ec8a5554a64a45607702a01ae46 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
92 schema:name Pedigree
93 rdf:type schema:DefinedTerm
94 N6ce5dd5d577246fca3bab47c685af4a0 rdf:first sg:person.01162126320.22
95 rdf:rest rdf:nil
96 N70494ed38b0040a4a8ade5c51a9c86f6 rdf:first sg:person.0777336535.06
97 rdf:rest N0a641f1493d04dc9b133342d2673f0c7
98 N9791534707a34ff4b1f65c35d3a65b9e schema:name readcube_id
99 schema:value bc5d9323e35383869273335e5dfd3bab4c2d4e67f15cf91cc487839b68ba8ae1
100 rdf:type schema:PropertyValue
101 N98c6231468d54db891c53a63be0cb169 schema:name Springer Nature - SN SciGraph project
102 rdf:type schema:Organization
103 N9b8d22016b8d41998d393f2cde79eee6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Sheep Diseases
105 rdf:type schema:DefinedTerm
106 N9d2c9c0f24dc4bdb90bcb1df7041dcce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
107 schema:name Lissencephaly
108 rdf:type schema:DefinedTerm
109 Na94e7686452b47618952b2ae8edb11fa schema:name dimensions_id
110 schema:value pub.1039543195
111 rdf:type schema:PropertyValue
112 Nabff02a95b39456e9599327797730b25 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Male
114 rdf:type schema:DefinedTerm
115 Nbe13c3837bab4044bd2fa4ccc53ec72d schema:name doi
116 schema:value 10.1186/1746-6148-9-156
117 rdf:type schema:PropertyValue
118 Ncc08e33060a54e3d90bc9e666ad839ab schema:name pubmed_id
119 schema:value 23938146
120 rdf:type schema:PropertyValue
121 Nd21dc9ce358948e09a4fab9f095f9769 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Female
123 rdf:type schema:DefinedTerm
124 Nd7bc3ef72fa9420aa5a52e4acfc8a2ed rdf:first sg:person.01052140246.90
125 rdf:rest N19f1ee65b99445a8ac68b098a7de78a0
126 Nd8388c6a9e5e46db8d37fc28f71e7083 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Animals
128 rdf:type schema:DefinedTerm
129 Nda7bfd52ced2404db81c230b820c9e7d schema:name nlm_unique_id
130 schema:value 101249759
131 rdf:type schema:PropertyValue
132 Nf8b16f16c4bb4b32bc70fb0a8b455f4d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
133 schema:name Genes, Recessive
134 rdf:type schema:DefinedTerm
135 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
136 schema:name Medical and Health Sciences
137 rdf:type schema:DefinedTerm
138 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
139 schema:name Neurosciences
140 rdf:type schema:DefinedTerm
141 sg:journal.1035490 schema:issn 1746-6148
142 schema:name BMC Veterinary Research
143 rdf:type schema:Periodical
144 sg:person.01052140246.90 schema:affiliation https://www.grid.ac/institutes/grid.4807.b
145 schema:familyName Suárez-Vega
146 schema:givenName Aroa
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01052140246.90
148 rdf:type schema:Person
149 sg:person.01057233402.34 schema:affiliation https://www.grid.ac/institutes/grid.4807.b
150 schema:familyName Pérez
151 schema:givenName Valentín
152 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01057233402.34
153 rdf:type schema:Person
154 sg:person.01162126320.22 schema:affiliation https://www.grid.ac/institutes/grid.4807.b
155 schema:familyName Arranz
156 schema:givenName Juan José
157 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01162126320.22
158 rdf:type schema:Person
159 sg:person.01165035161.18 schema:affiliation https://www.grid.ac/institutes/grid.4807.b
160 schema:familyName Benavides
161 schema:givenName Julio
162 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01165035161.18
163 rdf:type schema:Person
164 sg:person.01302615246.65 schema:affiliation https://www.grid.ac/institutes/grid.4807.b
165 schema:familyName Ferreras
166 schema:givenName M Carmen
167 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01302615246.65
168 rdf:type schema:Person
169 sg:person.01347376761.23 schema:affiliation https://www.grid.ac/institutes/grid.4807.b
170 schema:familyName Fuertes
171 schema:givenName Miguel
172 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01347376761.23
173 rdf:type schema:Person
174 sg:person.0777336535.06 schema:affiliation https://www.grid.ac/institutes/grid.4807.b
175 schema:familyName Delgado
176 schema:givenName Laetitia
177 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0777336535.06
178 rdf:type schema:Person
179 sg:pub.10.1007/bf00306191 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010099166
180 https://doi.org/10.1007/bf00306191
181 rdf:type schema:CreativeWork
182 sg:pub.10.1007/s00401-003-0776-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012680824
183 https://doi.org/10.1007/s00401-003-0776-0
184 rdf:type schema:CreativeWork
185 sg:pub.10.1007/s00401-010-0684-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1019010103
186 https://doi.org/10.1007/s00401-010-0684-z
187 rdf:type schema:CreativeWork
188 sg:pub.10.1007/s00401-010-0768-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039911735
189 https://doi.org/10.1007/s00401-010-0768-9
190 rdf:type schema:CreativeWork
191 sg:pub.10.1007/s10897-008-9169-9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044149630
192 https://doi.org/10.1007/s10897-008-9169-9
193 rdf:type schema:CreativeWork
194 sg:pub.10.1038/374719a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015900902
195 https://doi.org/10.1038/374719a0
196 rdf:type schema:CreativeWork
197 sg:pub.10.1038/39607 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046936837
198 https://doi.org/10.1038/39607
199 rdf:type schema:CreativeWork
200 sg:pub.10.1038/79246 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012756877
201 https://doi.org/10.1038/79246
202 rdf:type schema:CreativeWork
203 sg:pub.10.1038/nrn1113 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044231972
204 https://doi.org/10.1038/nrn1113
205 rdf:type schema:CreativeWork
206 https://app.dimensions.ai/details/publication/pub.1074463012 schema:CreativeWork
207 https://app.dimensions.ai/details/publication/pub.1083250184 schema:CreativeWork
208 https://doi.org/10.1002/(sici)1096-8628(19991105)87:1<40::aid-ajmg8>3.0.co;2-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032806838
209 rdf:type schema:CreativeWork
210 https://doi.org/10.1002/(sici)1096-8628(19991222)87:5<440::aid-ajmg14>3.0.co;2-# schema:sameAs https://app.dimensions.ai/details/publication/pub.1018981325
211 rdf:type schema:CreativeWork
212 https://doi.org/10.1002/9780470753316.ch18 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033247147
213 rdf:type schema:CreativeWork
214 https://doi.org/10.1002/9780470753316.ch63 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037287762
215 rdf:type schema:CreativeWork
216 https://doi.org/10.1016/j.cell.2006.12.021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047393206
217 rdf:type schema:CreativeWork
218 https://doi.org/10.1016/j.jcpa.2009.04.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030368836
219 rdf:type schema:CreativeWork
220 https://doi.org/10.1016/j.nbd.2009.02.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040511509
221 rdf:type schema:CreativeWork
222 https://doi.org/10.1016/s0092-8674(00)80782-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021530806
223 rdf:type schema:CreativeWork
224 https://doi.org/10.1016/s0092-8674(00)80899-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019394783
225 rdf:type schema:CreativeWork
226 https://doi.org/10.1016/s0166-2236(00)01607-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047878195
227 rdf:type schema:CreativeWork
228 https://doi.org/10.1016/s0896-6273(00)80749-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048930789
229 rdf:type schema:CreativeWork
230 https://doi.org/10.1055/s-0038-1623564 schema:sameAs https://app.dimensions.ai/details/publication/pub.1078484688
231 rdf:type schema:CreativeWork
232 https://doi.org/10.1055/s-2001-19120 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057411853
233 rdf:type schema:CreativeWork
234 https://doi.org/10.1055/s-2007-973778 schema:sameAs https://app.dimensions.ai/details/publication/pub.1057506045
235 rdf:type schema:CreativeWork
236 https://doi.org/10.1093/brain/awn155 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029466139
237 rdf:type schema:CreativeWork
238 https://doi.org/10.1093/brain/aws019 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012474388
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1093/hmg/ddq182 schema:sameAs https://app.dimensions.ai/details/publication/pub.1026888045
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1093/jnen/61.1.1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051500633
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1093/nar/16.3.1215 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012912024
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1111/j.1365-2052.2006.01550.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1036793889
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1111/j.1751-0813.1983.tb05926.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1032621964
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1136/jmg.33.4.319 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002946518
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1146/annurev.neuro.24.1.1005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031786820
253 rdf:type schema:CreativeWork
254 https://doi.org/10.1146/annurev.neuro.24.1.1041 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048449550
255 rdf:type schema:CreativeWork
256 https://doi.org/10.1177/0300985812447831 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038037672
257 rdf:type schema:CreativeWork
258 https://doi.org/10.1177/030098588902600106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048268230
259 rdf:type schema:CreativeWork
260 https://doi.org/10.1523/jneurosci.15-05-03730.1995 schema:sameAs https://app.dimensions.ai/details/publication/pub.1082492567
261 rdf:type schema:CreativeWork
262 https://doi.org/10.1523/jneurosci.17-23-09204.1997 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083171208
263 rdf:type schema:CreativeWork
264 https://www.grid.ac/institutes/grid.4807.b schema:alternateName University of Leon
265 schema:name Departamento de Producción Animal, Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, 24071, León, Spain
266 Departamento de Sanidad Animal (Anatomía Patológica), Instituto de Ganadería de Montaña (CSIC-ULE), Facultad de Veterinaria, Universidad de León, Campus de Vegazana s/n, 24071, León, Spain
267 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...